Journal article

Leigh Syndrome: Neuropathology and Pathogenesis

Nicole J Lake, Matthew J Bird, Pirjo Isohanni, Anders Paetau

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY | OXFORD UNIV PRESS INC | Published : 2015

Abstract

Leigh syndrome (LS) is the most common pediatric presentation of a defined mitochondrial disease. This progressive encephalopathy is characterized pathologically by the development of bilateral symmetrical lesions in the brainstem and basal ganglia that show gliosis, vacuolation, capillary proliferation, relative neuronal preservation, and by hyperlacticacidemia in the blood and/or cerebrospinal fluid. Understanding the molecular mechanisms underlying this unique pathology has been challenging, particularly in view of the heterogeneous and not yet fully determined genetic basis of LS. Moreover, animal models that mimic features of LS have only been created relatively recently. Here, we revie..

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University of Melbourne Researchers